Ebtesam Abdalla

The morbid genome of ciliopathies: an update

Hanan E. Shamseldin, Ranad Shaheen, Nour Ewida et al. · Genetics in Medicine · 2020 · 103 citations · Full text

Genetic Disorder, Medicine, Genetics +7

Phenotype and genotype of 87 patients with Mowat–Wilson syndrome and recommendations for care

Ivan Ivanovski, Olivera Djurić, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2018 · 102 citations · Full text

Mutations in RIPK4 Cause the Autosomal-Recessive Form of Popliteal Pterygium Syndrome

Ersan Kalay, Orhan Sezgın, Vasant Chellappa et al. · The American Journal of Human Genetics · 2011 · 92 citations · Full text

Developmental Biology, Mendelian Disorder, Autosomal-recessive Form +8

Diagnostic Exome Sequencing to Elucidate the Genetic Basis of Likely Recessive Disorders in Consanguineous Families

Periklis Makrythanasis, Mari Nelis, Federico Santoni et al. · Human Mutation · 2014 · 85 citations

Array Cgh, Rare Diseases, Mendelian Disorder +15

Neuroimaging findings in Mowat–Wilson syndrome: a study of 54 patients

Livia Garavelli, Ivan Ivanovski, Stefano Giuseppe Caraffi et al. · Genetics in Medicine · 2016 · 54 citations · Full text